Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.85663647_85663648delinsGTCA1266877022SFTPBc.856+16_856+17delinsAC (n.856+16_856+17delinsAC)
c.892+16_892+17delinsAC (n.892+16_892+17delinsAC)
c.845+16_845+17delinsAC
2g.85663648delCA236415SFTPBc.856+16del (n.856+16del)
c.892+16del (n.892+16del)
c.845+16del
 ClinVar dbSNP gnomAD v4
2g.85663648T>ACA534628211SFTPBc.856+16A>T (n.856+16A>T)
c.892+16A>T (n.892+16A>T)
c.845+16A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85663648T>CCA2581802008SFTPBc.856+16A>G (n.856+16A>G)
c.892+16A>G (n.892+16A>G)
c.845+16A>G
2g.85663648T>GCA1743911SFTPBc.856+16A>C (n.856+16A>C)
c.892+16A>C (n.892+16A>C)
c.845+16A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663648T=CA1266877023SFTPBc.856+16A= (n.856+16A=)
c.892+16A= (n.892+16A=)
c.845+16A=
2g.85663652_85663653insTAAGGAGGGGGCCA2659874605SFTPBc.856+15_856+16insCCTCCTTAGCCC (n.856+15_856+16insCCTCCTTAGCCC)
c.892+15_892+16insCCTCCTTAGCCC (n.892+15_892+16insCCTCCTTAGCCC)
c.845+15_845+16insCCTCCTTAGCCC
 gnomAD v4
2g.85663652_85663653insTCACTTGGGCTAAGGAGGGGGCCA1743912SFTPBc.856+15_856+16insCCTCCTTAGCCCAAGTGAGCCC (n.856+15_856+16insCCTCCTTAGCCCAAGTGAGCCC)
c.892+15_892+16insCCTCCTTAGCCCAAGTGAGCCC (n.892+15_892+16insCCTCCTTAGCCCAAGTGAGCCC)
c.845+15_845+16insCCTCCTTAGCCCAAGTGAGCCC
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663651G>ACA2577022211SFTPBc.856+13C>T (n.856+13C>T)
c.892+13C>T (n.892+13C>T)
c.845+13C>T
 gnomAD v4
2g.85663651G>TCA2659874608SFTPBc.856+13C>A (n.856+13C>A)
c.892+13C>A (n.892+13C>A)
c.845+13C>A
 gnomAD v4
2g.85663652C>TCA2659874610SFTPBc.856+12G>A (n.856+12G>A)
c.892+12G>A (n.892+12G>A)
c.845+12G>A
 gnomAD v4
2g.85663654G>ACA534628212SFTPBc.856+10C>T (n.856+10C>T)
c.892+10C>T (n.892+10C>T)
c.845+10C>T
 dbSNP gnomAD v2 gnomAD v4
2g.85663654G=CA1266877024SFTPBc.856+10C= (n.856+10C=)
c.892+10C= (n.892+10C=)
c.845+10C=
2g.85663654G>TCA2659874611SFTPBc.856+10C>A (n.856+10C>A)
c.892+10C>A (n.892+10C>A)
c.845+10C>A
 gnomAD v4
2g.85663655_85663656delinsTGCA1266877025SFTPBc.856+8_856+9delinsCA (n.856+8_856+9delinsCA)
c.892+8_892+9delinsCA (n.892+8_892+9delinsCA)
c.845+8_845+9delinsCA
2g.85663656G>TCA2659874612SFTPBc.856+8C>A (n.856+8C>A)
c.892+8C>A (n.892+8C>A)
c.845+8C>A
 gnomAD v4
2g.85663658delCA1743913SFTPBc.856+8del (n.856+8del)
c.892+8del (n.892+8del)
c.845+8del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663657G>ACA1266877027SFTPBc.856+7C>T (n.856+7C>T)
c.892+7C>T (n.892+7C>T)
c.845+7C>T
 dbSNP gnomAD v4
2g.85663657G>CCA1743914SFTPBc.856+7C>G (n.856+7C>G)
c.892+7C>G (n.892+7C>G)
c.845+7C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663657G=CA1266877026SFTPBc.856+7C= (n.856+7C=)
c.892+7C= (n.892+7C=)
c.845+7C=
2g.85663657G>TCA2659874615SFTPBc.856+7C>A (n.856+7C>A)
c.892+7C>A (n.892+7C>A)
c.845+7C>A
 gnomAD v4
2g.85663658G>ACA2659874620SFTPBc.856+6C>T (n.856+6C>T)
c.892+6C>T (n.892+6C>T)
c.845+6C>T
 gnomAD v4
2g.85663658G>TCA2750764613SFTPBc.856+6C>A (n.856+6C>A)
c.892+6C>A (n.892+6C>A)
c.845+6C>A
2g.85663658_85663675dupCA1033068040SFTPBc.845_856+6dup
c.881_892+6dup
c.834_845+6dup
 dbSNP gnomAD v3 gnomAD v4
2g.85663661C=CA1266877028SFTPBc.856+3G= (n.856+3G=)
c.892+3G= (n.892+3G=)
c.845+3G=
2g.85663661C>TCA1743915SFTPBc.856+3G>A (n.856+3G>A)
c.892+3G>A (n.892+3G>A)
c.845+3G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85663662A>CCA347487773SFTPBc.856+2T>G (n.856+2T>G)
c.892+2T>G (n.892+2T>G)
c.845+2T>G
 gnomAD v4
2g.85663662A>GCA347487776SFTPBc.856+2T>C (n.856+2T>C)
c.892+2T>C (n.892+2T>C)
c.845+2T>C
2g.85663662A>TCA347487770SFTPBc.856+2T>A (n.856+2T>A)
c.892+2T>A (n.892+2T>A)
c.845+2T>A
2g.85663663C>ACA347487779SFTPBc.856+1G>T (n.856+1G>T)
c.892+1G>T (n.892+1G>T)
c.845+1G>T
2g.85663663C>GCA347487782SFTPBc.856+1G>C (n.856+1G>C)
c.892+1G>C (n.892+1G>C)
c.845+1G>C
2g.85663663C>TCA347487783SFTPBc.856+1G>A (n.856+1G>A)
c.892+1G>A (n.892+1G>A)
c.845+1G>A
 COSMIC
2g.85663664T>ACA347487784SFTPBc.856A>T (p.Arg286Trp)
c.892A>T (p.Arg298Trp)
c.845A>T
c.856A>T (p.Arg286Ter)
 gnomAD v4
2g.85663664T>CCA347487785SFTPBc.856A>G (p.Arg286Gly)
c.892A>G (p.Arg298Gly)
c.845A>G
 gnomAD v4
2g.85663664T>GCA427080876SFTPBc.856A>C (p.Arg286=)
c.892A>C (p.Arg298=)
c.845A>C
2g.85663665T>ACA427080877SFTPBc.855A>T (p.Pro285=)
c.891A>T (p.Pro297=)
c.844A>T
2g.85663665T>CCA427080878SFTPBc.855A>G (p.Pro285=)
c.891A>G (p.Pro297=)
c.844A>G
2g.85663665T>GCA427080879SFTPBc.855A>C (p.Pro285=)
c.891A>C (p.Pro297=)
c.844A>C
2g.85663666G>ACA347487789SFTPBc.854C>T (p.Pro285Leu)
c.890C>T (p.Pro297Leu)
c.843C>T
 gnomAD v4 COSMIC
2g.85663666G>CCA347487787SFTPBc.854C>G (p.Pro285Arg)
c.890C>G (p.Pro297Arg)
c.843C>G
2g.85663666G>TCA347487786SFTPBc.854C>A (p.Pro285Gln)
c.890C>A (p.Pro297Gln)
c.843C>A
 gnomAD v4
2g.85663667G>ACA347487792SFTPBc.853C>T (p.Pro285Ser)
c.889C>T (p.Pro297Ser)
c.842C>T
2g.85663667G>CCA347487796SFTPBc.853C>G (p.Pro285Ala)
c.889C>G (p.Pro297Ala)
c.842C>G
2g.85663667G>TCA347487799SFTPBc.853C>A (p.Pro285Thr)
c.889C>A (p.Pro297Thr)
c.842C>A
 gnomAD v4
2g.85663667_85663670delCA2659874633SFTPBc.850_853del (p.Gly284GlnfsTer21)
c.886_889del (p.Gly296GlnfsTer21)
c.839_842del
c.850_853del (p.Gly284GlnfsTer17)
 gnomAD v4
2g.85663668G>ACA427080881SFTPBc.852C>T (p.Gly284=)
c.888C>T (p.Gly296=)
c.841C>T
 dbSNP gnomAD v2 gnomAD v4
2g.85663668G>CCA427080882SFTPBc.852C>G (p.Gly284=)
c.888C>G (p.Gly296=)
c.841C>G
2g.85663668G=CA1266877029SFTPBc.852C= (p.Gly284=)
c.888C= (p.Gly296=)
c.841C=
2g.85663668G>TCA427080883SFTPBc.852C>A (p.Gly284=)
c.888C>A (p.Gly296=)
c.841C>A
 dbSNP gnomAD v2 gnomAD v4
2g.85663669C>ACA347487802SFTPBc.851G>T (p.Gly284Val)
c.887G>T (p.Gly296Val)
c.840G>T
 gnomAD v4 COSMIC COSMIC

Number of alleles fetched